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A genome scan for genes underlying adult body size differences between Central African hunter-gatherers and farmers

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Pemberton, Trevor J., Verdu, Paul, Becker, Noémie S., Willer, Cristen J., Hewlett, Barry S., Le Bomin, Sylvie, Froment, Alain, Rosenberg, Noah A. +1 more·2018·Human Genetics
DOI 10.1007/s00439-018-1902-3

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Abstract

The evolutionary and biological bases of the Central African "pygmy" phenotype, a characteristic of rainforest hunter-gatherers defined by reduced body size compared with neighboring farmers, remain largely unknown. Here, we perform a joint investigation in Central African hunter-gatherers and farmers of adult standing height, sitting height, leg length, and body mass index (BMI), considering 358 hunter-gatherers and 169 farmers with genotypes for 153,798 SNPs. In addition to reduced standing heights, hunter-gatherers have shorter sitting heights and leg lengths and higher sitting/standing height ratios than farmers and lower BMI for males. Standing height, sitting height, and leg length are strongly correlated with inferred levels of farmer genetic ancestry, whereas BMI is only weakly correlated, perhaps reflecting greater contributions of non-genetic factors to body weight than to height. Single- and multi-marker association tests identify one region and eight genes associated with hunter-gatherer/farmer status, and 24 genes associated with the height-related traits. Many of these genes have putative functions consistent with roles in determining their associated traits and the pygmy phenotype, and they include three associated with standing height in non-Africans (PRKG1, DSCAM, MAGI2). We find evidence that European height-associated SNPs or variants in linkage disequilibrium with them contribute to standing- and sitting-height determination in Central Africans, but not to the differential status of hunter-gatherers and farmers. These findings provide new insights into the biological basis of the pygmy phenotype, and they highlight the potential of cross-population studies for exploring the genetic basis of phenotypes that vary naturally across populations.

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  • The Pygmy/non-Pygmy stature gap can be traced in part to specific differences in immune and neuroendocrine functioning.

    “Several authors (see, e.g., [33][34][35][36]) have applied these techniques to Pygmies, finding that the Pygmy/non-Pygmy stature gap can be traced in part to specific differences in immune and neuroendocrine functioning.”

    From Global Ancestry and Cognitive Ability (2019) · cites this paper as [35]

    The Discussion reports genes associated with Pygmy/non-Pygmy categorization that have immune functions and says the findings suggest contributions from immune- and growth-related adaptation. The Background describes altered insulin secretion and possible IGF1 and growth-hormone signaling differences, but does not establish that specific neuroendocrine differences account for the stature gap. (LLM, conf=0.84)

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Cited by

Sorted by citations

Authors
Pemberton, T. J., Verdu, P., Becker, N. S., Willer, C. J., Hewlett, B. S., Le Bomin, S., Froment, A., Rosenberg, N. A., & Heyer, E.
Affiliations
  • University of Manitoba (CA)
  • Centre National de la Recherche Scientifique (FR)
  • Éco-Anthropologie (FR)
  • University of Michigan (US)
  • Washington State University Vancouver (US)
  • Stanford University (US)
Corresponding author
  • Pemberton, Trevor J.
  • Verdu, Paul
  • Rosenberg, Noah A.
ORCID
Venue
Human Genetics
Publisher
Springer Science and Business Media LLC
Published
2018-07
Volume
137
Issue
6-7
Pages
487-509
ISSN
  • 0018-7348 (ISSN-L)
  • 0340-6717
  • 1432-1203
DOI
10.1007/s00439-018-1902-3
OpenAlex
W2883775714
Cited by
18
References
173
Citations by year
2026: 1 · 2024: 1 · 2023: 1 · 2022: 1 · 2021: 4 · 2020: 4 · 2019: 4 · 2018: 2
FWCI
2.15
Type
journal article
Language
en
Open access
Licence
Locations
  • Human Genetics (publishedVersion)
  • bioRxiv (Cold Spring Harbor Laboratory) (acceptedVersion, cc-by-nc-nd)
  • PubMed (publishedVersion)
  • HAL (submittedVersion, other-oa)
  • HAL (submittedVersion)
Funders
  • Natural Sciences and Engineering Research Council of Canada (RGPIN-2015-04739)
  • France–Stanford Center for Interdisciplinary Studies
  • Assistance Publique - Hôpitaux de Paris
  • Fondation pour la Recherche Médicale
  • University of Michigan Center for Genetics in Health and Medicine
  • Agence Nationale de la Recherche
Topics
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Associations and Epidemiology
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Forensic and Genetic Research
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic and phenotypic traits in livestock
Keywords
farmers, adult body size, standing height, sitting height, leg length, body mass index, genetic ancestry, genetic association, PRKG1, Dscam, MAGI2, linkage disequilibrium
MeSH terms
Africa, Central, Body Height, Female, Genotype, Humans, Male, Rural Population, Linkage Disequilibrium, Genome, Human, Polymorphism, Single Nucleotide, Black People

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